Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Jaume Llauger"'
Autor:
Claudia Nuñez‐Peralta, Jorge Alonso‐Pérez, Jaume Llauger, Sonia Segovia, Paula Montesinos, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Alicia Alonso‐Jiménez, Javier Sánchez‐González, Antonio Martínez‐Noguera, Isabel Illa, Jordi Díaz‐Manera
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 4, Pp 1032-1046 (2020)
Abstract Background Late‐onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of the enzyme acid alpha‐glucosidase. Enzymatic replacement therapy with recombin
Externí odkaz:
https://doaj.org/article/86919caaaf774def9498fb681c684de2
Autor:
Alicia Alonso-Jiménez, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Jaume Llauger, Jordi Díaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Quantitative MRI is an increasingly used method to monitor disease progression in muscular disorders due to its ability to measure changes in muscle fat content (reported as fat fraction) over a short period. Being able to objectively measure such ch
Externí odkaz:
https://doaj.org/article/d19a3ff6daf14f2ba6953357d47c900f
Autor:
Claudia Nuñez-Peralta, Paula Montesinos, Alicia Alonso-Jiménez, Jorge Alonso-Pérez, David Reyes-Leiva, Javier Sánchez-González, Jaume Llauger-Roselló, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Antonio Martínez-Noguera, Briano Matellini-Mosca, Glenn Walter, Jordi Díaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/d83de309379947a9a168a4c2cb7f4808
Autor:
Alicia Alonso-Jiménez, Esther Fernández-Simón, Daniel Natera-de Benito, Carlos Ortez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Patricia Piñol-Jurado, Ana Carrasco-Rozas, Xavier Suárez-Calvet, Cecilia Jimenez-Mallebrera, Andrés Nascimento, Jaume Llauger, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Introduction: Duchenne (DMD) and Becker (BMD) muscular dystrophy are X-linked muscular disorders produced by mutations in the DMD gene which encodes the protein dystrophin. Both diseases are characterized by progressive involvement of skeletal, cardi
Externí odkaz:
https://doaj.org/article/71b9634a1f1544c0bdd507c958aefd2e
Autor:
Ana Carrasco‐Rozas, Esther Fernández‐Simón, Maria Cinta Lleixà, Izaskun Belmonte, Irene Pedrosa-Hernandez, Elena Montiel-Morillo, Claudia Nuñez‐Peralta, Jaume Llauger Rossello, Sonia Segovia, Noemí De Luna, Xavier Suarez‐Calvet, Isabel Illa, Pompe Spanish Study group, Jordi Díaz‐Manera, Eduard Gallardo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1214-1224 (2019)
Abstract Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expressio
Externí odkaz:
https://doaj.org/article/3d16d64d0a1c4c4685e9063dc785cefc
Autor:
Elena Valassi, Natalia García-Giralt, Jorge Malouf, Iris Crespo, Jaume Llauger, Adolfo Díez-Pérez, Susan M Webb
Publikováno v:
Endocrine Connections, Vol 8, Iss 1, Pp 39-49 (2019)
Background: Biochemical control of GH/IGF-I excess in acromegaly (ACRO) is associated with persistent impairment of trabecular microstructure leading to increased risk of vertebral fractures. Circulating miRNAs modulate the activity of osteoblasts an
Externí odkaz:
https://doaj.org/article/8bd9ea588aa442b2a1cd54e3b37123b6
Autor:
David Reyes-Leiva, Jorge Alonso-Pérez, Mercedes Mayos, Claudia Nuñez-Peralta, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa-Hernández, Sonia Segovia, Jordi Díaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal musc
Externí odkaz:
https://doaj.org/article/9ec1aef99ea741589fdfb06e20e783ff
Autor:
Claudia Nuñez-Peralta, Paula Montesinos, Alicia Alonso-Jiménez, Jorge Alonso-Pérez, David Reyes-Leiva, Javier Sánchez-González, Jaume Llauger-Roselló, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Antonio Martínez-Noguera, Briano Matellini-Mosca, Glenn Walter, Jordi Díaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objectives: Magnetization transfer (MT) imaging exploits the interaction between bulk water protons and protons contained in macromolecules to induce signal changes through a special radiofrequency pulse. MT detects muscle damage in patients with neu
Externí odkaz:
https://doaj.org/article/d80748be2f744bcabc3b2c72b2b7fb04
Autor:
Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we inv
Externí odkaz:
https://doaj.org/article/945d00c7ea94451cb594a35eeef06617
Autor:
Sebastian Figueroa-Bonaparte, Jaume Llauger, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Paula Montesinos, Javier Sánchez-González, Alicia Alonso-Jiménez, Eduard Gallardo, Isabel Illa, Spanish Pompe group, Jordi Díaz-Manera
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to foll
Externí odkaz:
https://doaj.org/article/92acffe4ea3d495381a7f63dd8c21825